ABCA1 p.Ala374Gly
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PMID: 22124177
[PubMed]
Chauvet C et al: "Novel genes as primary triggers for polygenic hypertension."
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43
ATP-binding cassette, subfamily A (ABC1), member 8a (Abca8a) is a candidate for C10QTL2 The gene carries a mutation that transforms valine to isoleucine at the # 2932 coding nucleotide (Table 3 and 82 Journal of Hypertension 2012, Vol 30 No 1 Table 1 Mutation screening of genes in the C10QTL5-containing interval Gene Genomic start position Genomic end position #of exons Size of codons (bp) Mutation Lewis/ DSS Exon # Change in amino acid Lewis/DSS LOC689568 15 587 129 15 598 457 2 555 No rno-mir-21 15 863 705 15 863 795 No Tmem49 15 864 328 15 963 363 11 1221 G1101A No Ptrh2 15 963 619 15 973 650 1 546 No Cltc 15 976 030 16 031 734 31 5028 No Dhx40 16 042 910 16 079 838 18 2340 C930T No RGD1311564 16 208 978 16 263 148 4 513 No Gdpd1 16 299 664 16 344 248 10 945 C327T No A374G 5 Lys125Arg RGD1306862 16 347 133 16 356 149 4 2976 C1605T No Prr11 16 362 111 16 381 719 9 1107 2 Ala80Thr G238A 4 Leu193Pro T578C Genes are defined by the congenic strain C10S.L29 (Supplement 30, http://links.lww.com/HJH/A137).
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ABCA1 p.Ala374Gly 22124177:43:781
status: NEW